rs121434330

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121434330(C;C)

Make rs121434330(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

95987153

Gene

HAL

is a	snp
is	mentioned by
dbSNP	rs121434330
dbSNP (classic)	rs121434330
ClinGen	rs121434330
ebi	rs121434330
HLI	rs121434330
Exac	rs121434330
Gnomad	rs121434330
Varsome	rs121434330
LitVar	rs121434330
Map	rs121434330
PheGenI	rs121434330
Biobank	rs121434330
1000 genomes	rs121434330
hgdp	rs121434330
ensembl	rs121434330
geneview	rs121434330
scholar	rs121434330
google	rs121434330
pharmgkb	rs121434330
gwascentral	rs121434330
openSNP	rs121434330
23andMe	rs121434330
SNPshot	rs121434330
SNPdbe	rs121434330
MSV3d	rs121434330
GWAS Ctlg	rs121434330

Max Magnitude

0

OMIM	609457
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434330(A;A) rs121434330(C;C)
Alt	rs121434330(A;A) rs121434330(C;C)
Reference	Rs121434330(G;G)
Significance	Other
Disease	Histidinemia
Variation	info
Gene	HAL
CLNDBN	Histidinemia
Reversed	1
HGVS	NC_000012.11:g.96380931C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001760.4,